- Conditions
- Lowe Syndrome
- Interventions
- Not listed
- Lead sponsor
- National Human Genome Research Institute (NHGRI)
- NIH
- Eligibility
- Male only
- Enrollment
- 120 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2001 – 2009
- U.S. locations
- 1
- States / cities
- Bethesda, Maryland
Search Results
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Showing 1–24
of 791
matching trials from the live ClinicalTrials.gov search.
Local D1 index available.
- Conditions
- Phenylketonuria (PKU)
- Interventions
- Not listed
- Lead sponsor
- BioMarin Pharmaceutical
- Industry
- Eligibility
- 18 Years to 70 Years
- Enrollment
- 63 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2018 – 2019
- U.S. locations
- 4
- States / cities
- Gainesville, Florida • Decatur, Georgia • Chicago, Illinois + 1 more
- Conditions
- Classic Galactosemia, Speech Disorders in Children, Language Disorders in Children
- Interventions
- Babble Boot Camp
- Behavioral
- Lead sponsor
- Arizona State University
- Other
- Eligibility
- 2 Months to 54 Months
- Enrollment
- 285 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2019 – 2025
- U.S. locations
- 1
- States / cities
- Tempe, Arizona
- Conditions
- Phenylketonuria
- Interventions
- GMP Diet/GMP Medical Foods, AA Diet/AA Medical Foods
- Other
- Lead sponsor
- University of Wisconsin, Madison
- Other
- Eligibility
- 12 Years to 45 Years
- Enrollment
- 32 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2011 – 2016
- U.S. locations
- 2
- States / cities
- Boston, Massachusetts • Madison, Wisconsin
- Conditions
- Glycogen Storage Disease Type II
- Interventions
- Myozyme
- Biological
- Lead sponsor
- Genzyme, a Sanofi Company
- Industry
- Eligibility
- Not listed
- Enrollment
- 16 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2005 – 2006
- U.S. locations
- 6
- States / cities
- Birmingham, Alabama • Gainesville, Florida • Miami, Florida + 3 more
- Conditions
- Bardet-Biedl Syndrome
- Interventions
- Not listed
- Lead sponsor
- National Human Genome Research Institute (NHGRI)
- NIH
- Eligibility
- Not listed
- Enrollment
- 194 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2004 – 2016
- U.S. locations
- 1
- States / cities
- Bethesda, Maryland
- Conditions
- Glycogen Storage Disease Type II
- Interventions
- Myozyme
- Biological
- Lead sponsor
- Genzyme, a Sanofi Company
- Industry
- Eligibility
- Up to 26 Weeks
- Enrollment
- 16 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2003 – 2005
- U.S. locations
- 4
- States / cities
- Gainesville, Florida • Durham, North Carolina • Cincinnati, Ohio + 1 more
- Conditions
- Friedreich Ataxia
- Interventions
- Buccal Swabs and Blood Draws
- Diagnostic Test
- Lead sponsor
- Larimar Therapeutics, Inc.
- Industry
- Eligibility
- 12 Years to 65 Years
- Enrollment
- 20 participants
- Timeline
- 2020
- U.S. locations
- 1
- States / cities
- Philadelphia, Pennsylvania
- Conditions
- Phenylketonuria (PKU)
- Interventions
- Pegvaliase
- Drug
- Lead sponsor
- BioMarin Pharmaceutical
- Industry
- Eligibility
- Not listed
- Enrollment
- 200 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2024 – 2033
- U.S. locations
- 11
- States / cities
- Aurora, Colorado • Atlanta, Georgia • Chicago, Illinois + 8 more
- Conditions
- Urea Cycle Disorder
- Interventions
- Diagnostic Ultrasound
- Other
- Lead sponsor
- Baylor College of Medicine
- Other
- Eligibility
- 5 Years to 60 Years
- Enrollment
- 28 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2017 – 2020
- U.S. locations
- 1
- States / cities
- Houston, Texas
- Conditions
- MELAS Syndrome
- Interventions
- Fluzone®
- Biological
- Lead sponsor
- Stanford University
- Other
- Eligibility
- 13 Years to 65 Years
- Enrollment
- 22 participants
- Healthy volunteers
- Accepts healthy volunteers
- Timeline
- 2010 – 2012
- U.S. locations
- 1
- States / cities
- Stanford, California
- Conditions
- Infantile Neronal Ceroid Lipofuscinosis
- Interventions
- Cystagon
- Drug
- Lead sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
- NIH
- Eligibility
- 6 Months to 3 Years
- Enrollment
- 10 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2001 – 2013
- U.S. locations
- 1
- States / cities
- Bethesda, Maryland
- Conditions
- Gaucher Disease
- Interventions
- Not listed
- Lead sponsor
- Duke University
- Other
- Eligibility
- Not listed
- Enrollment
- 200 participants
- Timeline
- 2017 – 2028
- U.S. locations
- 1
- States / cities
- Durham, North Carolina
- Conditions
- Fabry Disease, Healthy
- Interventions
- Not listed
- Lead sponsor
- National Institute of Neurological Disorders and Stroke (NINDS)
- NIH
- Eligibility
- Male only
- Enrollment
- 24 participants
- Healthy volunteers
- Accepts healthy volunteers
- Timeline
- 2000 – 2001
- U.S. locations
- 1
- States / cities
- Bethesda, Maryland
- Conditions
- Pompe Disease
- Interventions
- Filgrastim
- Drug
- Lead sponsor
- Serhat Gumrukcu, MD PhD
- Other
- Eligibility
- 3 Years to 30 Years
- Enrollment
- 12 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2022 – 2023
- U.S. locations
- 1
- States / cities
- Toluca Lake, California
- Conditions
- Sickle Cell Disease, Cerebral Stroke
- Interventions
- Carbon Dioxide
- Other
- Lead sponsor
- Washington University School of Medicine
- Other
- Eligibility
- 3 Years to 50 Years
- Enrollment
- 350 participants
- Healthy volunteers
- Accepts healthy volunteers
- Timeline
- 2019 – 2027
- U.S. locations
- 1
- States / cities
- St Louis, Missouri
- Conditions
- Pompe Disease, Pompe Disease (Late-onset), GAA Deficiency
- Interventions
- Observational
- Other
- Lead sponsor
- Duke University
- Other
- Eligibility
- 3 Months to 54 Months
- Enrollment
- 20 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2019 – 2027
- U.S. locations
- 1
- States / cities
- Durham, North Carolina
- Conditions
- Menkes Disease
- Interventions
- Long Term Follow-Up
- Drug
- Lead sponsor
- Sentynl Therapeutics, Inc.
- Industry
- Eligibility
- Not listed
- Enrollment
- 50 participants
- Timeline
- 2019 – 2026
- U.S. locations
- 1
- States / cities
- Solana Beach, California
- Conditions
- Lysosomal Acid Lipase Deficiency
- Interventions
- Sebelipase Alfa
- Drug
- Lead sponsor
- Alexion Pharmaceuticals, Inc.
- Industry
- Eligibility
- Up to 8 Months
- Enrollment
- 10 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2014 – 2018
- U.S. locations
- 1
- States / cities
- Phoenix, Arizona
- Conditions
- Friedreich Ataxia
- Interventions
- Respiratory Strength Training (RST)
- Other
- Lead sponsor
- University of Florida
- Other
- Eligibility
- 18 Years to 65 Years
- Enrollment
- 1 participant
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2024 – 2025
- U.S. locations
- 1
- States / cities
- Gainesville, Florida
- Conditions
- X-Linked Adrenoleukodystrophy (X-ALD), Cerebral Adrenoleukodystrophy (CALD), Adrenoleukodystrophy (ALD)
- Interventions
- Allo-HSCT
- Genetic
- Lead sponsor
- Genetix Biotherapeutics Inc.
- Industry
- Eligibility
- Up to 17 Years · Male only
- Enrollment
- 59 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2015 – 2019
- U.S. locations
- 6
- States / cities
- Los Angeles, California • Palo Alto, California • Boston, Massachusetts + 3 more
- Conditions
- Behavioral Manifestations of Lesch-Nyhan Disease
- Interventions
- sapropterin
- Drug
- Lead sponsor
- University of California, San Diego
- Other
- Eligibility
- 4 Years and older
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2009 – 2010
- U.S. locations
- 1
- States / cities
- San Diego, California
- Conditions
- GM1 Gangliosidosis
- Interventions
- LYS-GM101
- Genetic
- Lead sponsor
- LYSOGENE
- Industry
- Eligibility
- Up to 3 Years
- Enrollment
- 5 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2021 – 2023
- U.S. locations
- 1
- States / cities
- Orange, California
- Conditions
- Pompe Disease (Late-Onset), Glycogen Storage Disease Type II (GSD-II), Glycogenesis Type II, Acid Maltase Deficiency (AMD)
- Interventions
- alglucosidase alfa
- Biological
- Lead sponsor
- Genzyme, a Sanofi Company
- Industry
- Eligibility
- 8 Years and older
- Enrollment
- 81 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2007 – 2008
- U.S. locations
- 26
- States / cities
- Anchorage, Alaska • Phoenix, Arizona • Beverly Hills, California + 23 more